A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14685719



Internal ID6627008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:32560371..32563408hg38UCSC Ensembl
chr13:33134508..33137545hg19UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg383038
hg193038
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631723
Supporting Variants
SamplesNA20790
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14685719
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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